C335G Summary

SCN5A C335G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C335G is not present in gnomAD. C335G has been functionally characterized in 0 papers. Other variants at the same resdue are C335F .C335G .C335R .C335S .C335S .C335W .C335Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C335G Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
NA NA NA NA NA NA NA NA 0.936

C335G has 34 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.

ResidueNumber Distance(Å) Variants
278 11.2
279 11.5
280 6.7
281 9.8 V281M
282 11.3 R282C R282H
283 12
284 14.7
323 11.9
324 10.7
325 10.3
326 5.3
327 6.5
328 8.4
329 10.5
330 12.4
331 12.3
332 9.1 A332T
333 7.2
334 4.1
336 3.7 P336L
337 7.7
338 7.7
339 6.5
340 9 R340Q R340W
341 7.6 C341Y
342 11
382 14.7
383 9.7
384 11
385 13.2 A385T
386 14.2 G386E G386R G386R
1689 12.6
1690 11.8 D1690N
1691 12.1